Further delineation of the MECP2 duplication syndrome phenotype in 59 French male patients, with a particular focus on morphological and neurological features
M Miguet, L Faivre, J Amiel, M Nizon… - Journal of Medical …, 2018 - jmg.bmj.com
The Xq28 duplication involving the MECP2 gene (MECP2 duplication) has been mainly
described in male patients with severe developmental delay (DD) associated with spasticity …
described in male patients with severe developmental delay (DD) associated with spasticity …